The Genetics of Autism
The strongest evidence about autism causation comes from genetic research. Twin studies, comparing identical twins (who share nearly all DNA) with fraternal twins (who share about half), consistently show that when one identical twin is autistic, the other twin is autistic at much higher rates than seen in fraternal twins. This heritability signal indicates that genetic factors account for a large proportion of autism risk, with estimates typically ranging from 60% to 90%.
However, autism genetics is not simple. No single gene causes autism. Hundreds of genes have been identified as contributing to autism risk, and the interactions between them are complex. Some cases of autism are associated with specific rare genetic mutations or chromosomal variations (such as those seen in Fragile X syndrome, Rett syndrome, or 22q11.2 deletion syndrome), but these account for only a minority of autism cases. The majority of autism appears to arise from the combined effect of many common genetic variants, each contributing a small amount of risk.
Research into the genetic architecture of autism is ongoing. Large genome-wide association studies (GWAS) continue to identify new genetic associations. This research may eventually contribute to earlier identification. Autism genetics research is primarily aimed at understanding, not at developing prenatal screening or elimination of autistic traits.